Screening of <i>ABCG5</i> and <i>ABCG8</i> Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program

Abstract

Testing genes associated with sitosterolemia in the molecular routine workflow of a familial hypercholesterolemia cascade screening program allowed the precise diagnosis of sitosterolemia in a substantial number of patients with varying LDL-C levels and high incidence of early atherosclerotic cardiovascular disease and hematologic abnormalities.